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Biomedical subjects

C Angelini

Publications and source records attributed to C Angelini.

At least 217 records · Page 12Linked to original sources
PubMed1981

[Systemic carnitine deficiency: its place in Reye's syndrome (author's transl)].

A case of systemic carnitine deficiency in a 3-year-old child is reported. Clinical presentation included progressive cardiomyopathy and severe episodes of hypoglycaemia without ketosis, accompanied with hepatic encephalopathy. Each episode was initiated by upper respiratory infection and complicated by cardiac arrest. Oral carnitine (4 g/24 h) and low fat diet (20% of total calories) resulted in dramatic improvement of cardiac, hepatic and neuromuscular symptoms, while tissues remained depleted. Systemic carnitine deficiency should be suspected in patients with symptoms resembling Reye's syndrome.

Cardiomyopathies↗
PubMed1981

Fatal lipid storage with abnormal mitochondria in an infant.

Biochemical, electron microscopic observations in muscle and liver of an infant dying at 20 months of age of a mitochondrial myopathy are described. Biochemical analysis of tissues revealed low levels of free, esterified and total carnitine and marked decrease of succinic-dehydrogenase activity while cytochrome c-oxidase was normal. Ultrastructural data showed a megaconial myopathy.

Brain Diseases, Metabolic↗
PubMed1981

Myopathological findings in progressive myoclonus epilepsy.

8 patients with progressive myoclonic epilepsy have been studied. Muscle biopsies showed polysaccharide accumulation in branched form, mitochondrial alteration, lipid droplets and lipofucsin bodies. " Muscle Lafora bodies" were present in two cases. A peculiar muscle cytoskeleton appearance has been seen, suggesting an abnormal physico-chemical state of the newly observed filaments that joins Z-bands among them and with the plasma membrane.

Adolescent↗
PubMed1981

Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy.

Two brothers, 17 and 11 years old, presented with pes cavus, absence of deep tendon reflexes, péripheral vibratory sensory loss, ataxia, tremor, nystagmus, dysarthria and partial myoclonic epilepsy. Electromyography showed severe slowing of motor conduction velocity in the lower extremities and increased distal latencies. A peroneal nerve biopsy showed absence of myelin sheath in most fibres resulting in numerous demyelinated nerve fibres. The father and seven uncles on the paternal side had pes cavus, hammer toes and moderate vibratory peripheral sensory loss. Three of seven siblings had slow motor conduction velocities on EMG. None had EEG abnormalities. Epilepsy started at an early age in both patients with myoclonic jerks of the right arm especially during sleep. EEG recordings were characterized by focal or diffuse epileptiform discharges. In the elder brother a partial motor epileptic status occurred with adversive seizures involving the right side of the body. He died of a broncopneumonia after 3 days of this epileptic status. Histopathological examination showed a severe demyelination of dentato-rubral pathways in the cerebellum and a partial degeneration of Goll and Burdach's tracts in the cervical spinal cord. The nosological classification of this syndrome is discussed and an autosomal dominant inheritance with incomplete penetrance or variable expressivity is suggested.

Adolescent↗
PubMed1981

Carnitine deficiency induced during hemodialysis and hyperlipidemia: effect of replacement therapy.

Plasma carnitine levels were studied in 14 uremic patients before, during, and after hemodialysis. The predialysis plasma carnitine levels were normal but fell during dialysis (half-life of 3.6 h). Plasma carnitine levels rose quickly in the first 6 h after dialysis, after which time the rise was more gradual. Muscle carnitine was significantly reduced in the dialyzed patients (p less than 0.005) compared with controls. In four patients lipid droplets were observed in muscle. Ten patients on maintenance hemodialysis exhibited plasma hyperlipidemia and low muscle carnitine. These individuals were given DL-carnitine (50 mg/kg body weight) intravenously after each dialysis. At the end of a 2-month carnitine treatment, plasma triglyceride levels were found to be reduced (p less than 0.001) and muscle carnitine content significantly increased (p less than 0.005). These findings suggest that carnitine may be useful in treatment of hypertriglyceridemia and muscle carnitine deficiency states induced during maintenance hemodialysis.

Adult↗
PubMed1981

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting, serum free fatty acid rose in both siblings, but only the sister produced ketone bodies and had elevated creatine phosphokinase activity. Carnitine palmityl transferase (CPT) activity was less than 30% of normal in muscle and platelets. Liver biopsy disclosed a low level of the enzyme in the brother. The parents had intermediate levels of the enzyme in platelets. CPT deficiency seems to have an autosomal-recessive pattern of inheritance and a variable phenotypic expression.

Acyltransferases↗
PubMed1980

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.

A 3 1/2-year-old boy presented at three months of age with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly, and cardiomegaly, which responded poorly to restoration of the blood sugar level to normal. The absence of ketonuria during subsequent episodes of severe hypoglycemia prompted a search for a defect in fatty acid oxidation. Plasma carnitine (2.0 to 5.0 mumol per liter), muscle carnitine (0.01 to 0.02 mumol per gram, wet weight) and liver carnitine (0.021 to 0.065 mumol per gram, wet weight) were all less than 5 per cent of the normal mean. During a 36-hour fast, ketones were barely detectable. Prolonged treatment with oral carnitine over a six-month period resulted in increased muscle strength, a dramatic reduction in cardiac size, relief of cardiomyopathy, partial repletion of carnitine levels in plasma and muscle, and complete repletion in the liver. Systemic carnitine deficiency is an easily treatable cause of recurrent Reye's-like syndrome. Its diagnosis requires measurement of carnitine levels.

Carnitine↗
PubMed1980

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

A five-year-old girl presented with congenital ichthyosis, hepatosplenomegaly, vacuolized granulocytes (Jordans' anomaly), and myopathy. Pathological, ultrastructural, and biochemical studies revealed nonlysosomal, multisystemic triglyceride storage. The cultured fibroblasts had increased uptake but decreased oxidation of labeled oleate. The patient failed to produce ketone bodies on fasting. A medium-chain triglyceride diet reversed the hepatomegaly. These studies are all consistent with a partial defect in the catabolism of long-chain fatty acids. This newly identified syndrome is presumably transmitted as an autosomal recessive trait.

Bone Marrow↗
PubMed1980

Duchenne muscular dystrophy: data from family studies.

In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2 X 10(-5) and female gamete mutation rate was estimated by the direct method between 61 and 35 X 10(-6). The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.

Female↗
PubMed1980

Plasma and urine carnitine levels during development.

Plasma and urine free carnitine concentration during human development was evaluated. A positive correlation was found between plasma level and body weight in premature neonates weighting between 1.15 and 1.80 kg. In full terms newborns, the free carnitine concentration (mean +/- S.E., 31.2 +/- 2.5 nmoles/ml) is similar to that of premature babies with 33 to 36 wk of gestational age (37.5 +/- 3.1 nmoles/ml) but significantly lower than that of premature babies aged 30 to 33 wk of gestation (43.0 +/- 5.6 nmoles/ml). In the first 2 wk of life, free carnitine level showed a good correlation with age in the full-term newborns. Adult levels are reached by the end of the first 6 months. no sex related difference was observed in any of the different groups during growth. Urinary excretion of free carnitine per day is significantly lower in infants 0 to 3 years old (mean +/- S.E., 15.5 +/- 1.8 mumoles/24 hr) and in children 3 to 10 years old (115.3 +/- 11.4 mumoles/24 hr) than in subjects ranging in age from 22 to 70 years (216 +/- 20.6 mumoles/24 hr). We found no difference between day- and nighttime urinary excretion in newborns and infants.

Adolescent↗
PubMed1980

[The heart in myotonic dystrophy. Clinical and instrumental study in 17 patients (author's transl)].

17 patients with myotonic dystrophy have been studied. The skeletal muscle disease has been assessed by history, physical examination, electro-myography and muscle biopsy. Cardiac evaluation has been obtained by history, physical examination, chest X-ray, ecg at rest and after exercise, vectorcardiography and echocardiography. Only two patients presented symptoms and clinical findings of cardiac disease, otherwise conduction disturbances have been founded in 15 cases, pseudoinfarct pattern in 5 cases and loss of anterior vectors in 2 cases. Has to be remembered that in myotonic dystrophy sudden death has a very high incidence, which could be explained by the development of complete a-v block, because of the impairment of the conduction system. Therefore, in those patients with bifascicular blocks (3 cases), the electrophysiological study may be useful in order to evaluate the opportunity to put on a permanent pace-maker, to prevent sudden death.

Adolescent↗
PubMed1979

Assessment of the value of thymic scan in myasthenia gravis.

Fifty-three patients were investigated by Se methionine scan in order to evaluate the role of the thymus gland in myasthenia gravis. The thymus of 28 of the above patients was examined histologically. Five out of six thymomas were detected with this technique and eight out of twelve hyperplasias were revealed. The above data suggests that Se methionine scan is a useful, innocuous tool for diagnosing neoplasms and abnormal germinal centers in thymus glands.

Adolescent↗
PubMed1978

Carnitine deficiency: acute postpartum crisis.

A 16-year-old girl, previously in good health, developed progressive generalized muscle weakness following her first parturition. The neck and proximal limb muscles were especially weak and painful. Carnitine (4-trimethylamino-3-hydroxybutyrate) was markedly decreased in muscle, plasma, and urine. Dietary carnitine supplementation, 2.0 gm daily, was followed by clinical improvement and decreased lipid droplets in muscle biopsy. Together with previously reported cases, 2 fatal, the patient's illness emphasizes the risk of pregnancy in women with carnitine deficiency.

Adolescent↗
PubMed1977

Duchenne muscular dystrophy. A population study.

By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10(-6), incidence rate about 28x10(-5), while mutation rate was found lower than 50x10(-6) by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed.

Female↗